Canonical Allele Identifier: CA5375112

Gene: EHMT1

Linked Data

• dbSNP Id: rs763031759
• ExAC: 9:140707538 C / G
• gnomAD v2: 9-140707538-C-G
• gnomAD v4: 9-137813086-C-G
• MyVariant Identifiers: chr9:g.140707538C>G (hg19) ; chr9:g.137813086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813086C>G , CM000671.2:g.137813086C>G	GRCh38
NC_000009.11:g.140707538C>G , CM000671.1:g.140707538C>G	GRCh37
NC_000009.10:g.139827359C>G	NCBI36
NG_011776.1:g.199095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2948C>G MANE Select	ENSP00000417980.1:p.Ser983Cys
ENST00000636027.1:c.2834C>G	ENSP00000489961.1:p.Ser945Cys
ENST00000637161.1:c.2855C>G	ENSP00000490328.1:p.Ser952Cys
ENST00000637261.1:c.2988C>G	ENSP00000490815.1:n.2988C>G
ENST00000637891.1:c.842C>G	ENSP00000490907.1:p.Ser281Cys
ENST00000460843.5:c.2948C>G	ENSP00000417980.1:p.Ser983Cys
ENST00000462942.3:c.1805C>G	ENSP00000436107.1:p.Ser602Cys
ENST00000486164.5:c.635C>G
ENST00000488242.2:n.474C>G
NM_024757.4:c.2948C>G	NP_079033.4:p.Ser983Cys
XM_005266105.3:c.2939C>G	XP_005266162.1:p.Ser980Cys
XM_005266110.1:c.2855C>G	XP_005266167.1:p.Ser952Cys
XM_006717288.2:c.2930C>G	XP_006717351.1:p.Ser977Cys
XM_011519021.1:c.2957C>G	XP_011517323.1:p.Ser986Cys
XM_011519022.1:c.2954C>G	XP_011517324.1:p.Ser985Cys
XM_011519023.1:c.2936C>G	XP_011517325.1:p.Ser979Cys
XM_011519024.1:c.2879C>G	XP_011517326.1:p.Ser960Cys
XM_011519025.1:c.2855C>G	XP_011517327.1:p.Ser952Cys
XM_011519026.1:c.2813C>G	XP_011517328.1:p.Ser938Cys
XM_011519029.1:c.1379C>G	XP_011517331.1:p.Ser460Cys
XM_011519030.1:c.731C>G	XP_011517332.1:p.Ser244Cys
XM_011519031.1:c.518C>G	XP_011517333.1:p.Ser173Cys
XM_011519032.1:c.518C>G	XP_011517334.1:p.Ser173Cys
XM_011519033.1:c.2792C>G	XP_011517335.1:p.Ser931Cys
NM_001354263.1:c.2927C>G	NP_001341192.1:p.Ser976Cys
XM_005266105.5:c.2939C>G	XP_005266162.1:p.Ser980Cys
XM_011519021.3:c.2957C>G	XP_011517323.1:p.Ser986Cys
XM_011519022.3:c.2954C>G	XP_011517324.1:p.Ser985Cys
XM_011519023.3:c.2936C>G	XP_011517325.1:p.Ser979Cys
XM_011519029.3:c.1379C>G	XP_011517331.1:p.Ser460Cys
XM_011519030.3:c.731C>G	XP_011517332.1:p.Ser244Cys
XM_017015134.1:c.2933C>G	XP_016870623.1:p.Ser978Cys
XM_017015136.2:c.2849C>G	XP_016870625.1:p.Ser950Cys
XM_017015137.1:c.2834C>G	XP_016870626.1:p.Ser945Cys
XM_017015138.1:c.2834C>G	XP_016870627.1:p.Ser945Cys
XM_024447674.1:c.2777C>G	XP_024303442.1:p.Ser926Cys
XM_024447675.1:c.2711C>G	XP_024303443.1:p.Ser904Cys
XM_024447676.1:c.2072C>G	XP_024303444.1:p.Ser691Cys
XM_024447677.1:c.2072C>G	XP_024303445.1:p.Ser691Cys
XM_024447680.1:c.2690C>G	XP_024303448.1:p.Ser897Cys
NM_024757.5:c.2948C>G MANE Select	NP_079033.4:p.Ser983Cys
NM_001354263.2:c.2927C>G	NP_001341192.1:p.Ser976Cys